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Results 1 - 5 of 5 for Nephronophthisis type 6
  1. NPHP1 gene 
    ... an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet. 1997 Oct;17(2):149-53. doi: 10.1038/ng1097-149. Citation on PubMed Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. Senior-Løken syndrome 
    ... retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis. 1998 Dec;32(6):1059-62. doi: 10.1016/s0272-6386(98) ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  3. Mainzer-Saldino syndrome 
    ... A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  4. Joubert syndrome 
    ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 PubMed Brancati ... pathologic significance. J Child Neurol. 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. Citation on ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  5. WDR19 gene 
    ... of other problems, including a kidney condition called nephronophthisis and eye abnormalities.The WDR19 gene mutations involved ... This Health Condition MedlinePlus Genetics provides information about Nephronophthisis More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics